FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lethal congenital contracture syndrome 3 ID (Ontology) DOID:0060653 (Human Disease)
Definition A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
Also Known As "Israeli Bedouin type B multiple contracture syndrome"
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 Genes
 lethal congenital contracture syndrome 3       2
 for disease ribbon | lethal congenital contracture syndrome 3       2
 model of | lethal congenital contracture syndrome 3       2
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autosomal recessive disease__
physical disorder____________|
syndrome_____________________|
                             lethal congenital contracture syndrome
                              |__lethal congenital contracture syndrome 3  2 rec.
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Is a lethal congenital contracture syndrome
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Synonyms
  • "Israeli Bedouin type B multiple contracture syndrome" EXACT
Secondary IDs
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MIM:611369
ORDO:137783